Mutagenetix > Incidental Mutation

Incidental Mutation 'R6492:Pramel6'

522929

Institutional Source

Beutler Lab

Gene Symbol

Pramel6

Ensembl Gene

ENSMUSG00000025838

Gene Name

PRAME like 6

Synonyms

MMRRC Submission

044624-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6492 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87336909-87341209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87340766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 366 (T366I)

Ref Sequence

ENSEMBL: ENSMUSP00000107198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026956] [ENSMUST00000111572]

AlphaFold

Q810Y9

Predicted Effect

probably benign
Transcript: ENSMUST00000026956
AA Change: T366I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000026956
Gene: ENSMUSG00000025838
AA Change: T366I

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
SCOP:d1a4ya_	223	411	5e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111572
AA Change: T366I

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107198
Gene: ENSMUSG00000025838
AA Change: T366I

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
SCOP:d1a4ya_	223	411	5e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150746

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,631,464 (GRCm39)	T587I	probably benign	Het
Abl1	T	A	2: 31,691,667 (GRCm39)	M1062K	probably benign	Het
Agbl4	G	A	4: 111,404,469 (GRCm39)	D272N	probably damaging	Het
Apob	A	T	12: 8,058,261 (GRCm39)	I2215F	probably damaging	Het
Atp10b	A	T	11: 43,109,784 (GRCm39)	Q821H	probably damaging	Het
Atp1a3	T	C	7: 24,678,729 (GRCm39)	Y971C	probably damaging	Het
Atp6ap1l	A	T	13: 91,031,841 (GRCm39)	H280Q	probably damaging	Het
B4galt2	A	T	4: 117,734,164 (GRCm39)	M291K	probably damaging	Het
Cachd1	G	T	4: 100,809,315 (GRCm39)	V267F	possibly damaging	Het
Cadm2	G	T	16: 66,581,715 (GRCm39)	L188M	probably damaging	Het
Ccn6	C	T	10: 39,030,983 (GRCm39)	G180D	probably benign	Het
Ceacam19	T	C	7: 19,616,517 (GRCm39)	N199S	probably benign	Het
Chrna5	A	G	9: 54,905,347 (GRCm39)	D53G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Cluap1	T	A	16: 3,746,476 (GRCm39)	M279K	probably benign	Het
Cngb1	T	A	8: 95,991,052 (GRCm39)	M717L	probably benign	Het
Cp	T	C	3: 20,036,186 (GRCm39)	V777A	probably benign	Het
Drosha	A	G	15: 12,861,792 (GRCm39)	D594G	probably benign	Het
Exo5	A	G	4: 120,778,734 (GRCm39)		probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gprc5b	A	G	7: 118,583,800 (GRCm39)	I23T	possibly damaging	Het
Ikbke	T	C	1: 131,186,955 (GRCm39)	Y579C	probably damaging	Het
Ikzf2	T	C	1: 69,578,201 (GRCm39)	Y362C	probably damaging	Het
Itfg1	A	G	8: 86,466,978 (GRCm39)	V365A	probably benign	Het
Josd2	T	C	7: 44,120,578 (GRCm39)	I105T	probably damaging	Het
Mc3r	G	A	2: 172,091,074 (GRCm39)	A99T	possibly damaging	Het
Mettl22	T	A	16: 8,306,755 (GRCm39)		probably null	Het
Mgat5	A	G	1: 127,399,301 (GRCm39)	I619V	probably benign	Het
Nin	T	C	12: 70,101,308 (GRCm39)	I430V	probably benign	Het
Or52n2c	C	A	7: 104,574,852 (GRCm39)	A40S	possibly damaging	Het
Or5au1	A	G	14: 52,272,902 (GRCm39)	F222S	probably benign	Het
Or5j3	T	C	2: 86,128,990 (GRCm39)	F277L	probably benign	Het
Or5w22	C	G	2: 87,363,085 (GRCm39)	A236G	possibly damaging	Het
Or8k3	T	A	2: 86,058,731 (GRCm39)	I195F	possibly damaging	Het
Parvb	T	C	15: 84,188,073 (GRCm39)	L272P	probably damaging	Het
Pde2a	A	G	7: 101,149,649 (GRCm39)	K180E	possibly damaging	Het
Pik3c3	C	T	18: 30,457,615 (GRCm39)	T736M	probably damaging	Het
Plcb4	C	T	2: 135,814,991 (GRCm39)	R760*	probably null	Het
Prr29	C	T	11: 106,266,062 (GRCm39)	R42W	probably damaging	Het
Prss12	A	G	3: 123,241,048 (GRCm39)	I81V	probably benign	Het
Ptpn13	A	G	5: 103,649,478 (GRCm39)	T294A	probably benign	Het
Ptprc	A	T	1: 138,041,300 (GRCm39)		probably null	Het
Sin3b	T	A	8: 73,460,118 (GRCm39)		probably null	Het
Slco5a1	T	C	1: 13,060,151 (GRCm39)	Y190C	probably damaging	Het
Slco6c1	T	G	1: 97,053,538 (GRCm39)	Y121S	probably damaging	Het
Srcap	G	T	7: 127,121,317 (GRCm39)	G217*	probably null	Het
Ss18	A	T	18: 14,784,145 (GRCm39)	M181K	probably damaging	Het
Synm	T	C	7: 67,385,809 (GRCm39)	T176A	probably benign	Het
Taf3	T	C	2: 9,955,971 (GRCm39)	E579G	probably damaging	Het
Taf7	A	G	18: 37,776,159 (GRCm39)	I136T	probably damaging	Het
Tfap2d	G	C	1: 19,174,702 (GRCm39)	G52R	probably benign	Het
Tyrp1	A	G	4: 80,759,018 (GRCm39)	D297G	probably null	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Wwp1	G	A	4: 19,650,299 (GRCm39)	S289L	possibly damaging	Het
Xbp1	T	C	11: 5,471,005 (GRCm39)	V4A	probably benign	Het
Zbtb17	G	A	4: 141,190,694 (GRCm39)	G171S	probably benign	Het
Zbtb2	T	C	10: 4,319,711 (GRCm39)	Y105C	probably damaging	Het
Zeb2	T	C	2: 45,000,508 (GRCm39)		probably benign	Het
Zkscan8	A	T	13: 21,709,397 (GRCm39)	I167N	probably benign	Het

Other mutations in Pramel6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01555:Pramel6	APN	2	87,341,129 (GRCm39)	utr 3 prime	probably benign
IGL02867:Pramel6	APN	2	87,340,736 (GRCm39)	missense	probably damaging	0.98
IGL03212:Pramel6	APN	2	87,340,769 (GRCm39)	missense	probably damaging	1.00
R1453:Pramel6	UTSW	2	87,338,917 (GRCm39)	missense	possibly damaging	0.83
R1905:Pramel6	UTSW	2	87,339,527 (GRCm39)	missense	probably damaging	0.99
R1905:Pramel6	UTSW	2	87,339,526 (GRCm39)	missense	probably damaging	1.00
R1940:Pramel6	UTSW	2	87,339,076 (GRCm39)	missense	probably damaging	1.00
R2057:Pramel6	UTSW	2	87,339,059 (GRCm39)	missense	possibly damaging	0.92
R2073:Pramel6	UTSW	2	87,339,088 (GRCm39)	missense	probably damaging	1.00
R3423:Pramel6	UTSW	2	87,341,140 (GRCm39)	splice site	probably null
R3500:Pramel6	UTSW	2	87,339,569 (GRCm39)	missense	probably damaging	0.96
R4097:Pramel6	UTSW	2	87,339,697 (GRCm39)	missense	probably benign	0.19
R4396:Pramel6	UTSW	2	87,338,874 (GRCm39)	missense	probably damaging	1.00
R4538:Pramel6	UTSW	2	87,338,903 (GRCm39)	missense	probably benign	0.02
R4719:Pramel6	UTSW	2	87,341,096 (GRCm39)	missense	probably benign	0.00
R4779:Pramel6	UTSW	2	87,339,941 (GRCm39)	missense	probably benign	0.01
R6054:Pramel6	UTSW	2	87,339,003 (GRCm39)	missense	probably benign	0.07
R6457:Pramel6	UTSW	2	87,339,782 (GRCm39)	missense	probably damaging	0.99
R6477:Pramel6	UTSW	2	87,340,946 (GRCm39)	missense	possibly damaging	0.92
R6684:Pramel6	UTSW	2	87,339,748 (GRCm39)	missense	probably damaging	1.00
R6983:Pramel6	UTSW	2	87,339,923 (GRCm39)	missense	possibly damaging	0.94
R7351:Pramel6	UTSW	2	87,340,672 (GRCm39)	missense	probably benign	0.00
R7357:Pramel6	UTSW	2	87,340,856 (GRCm39)	missense	not run
R7748:Pramel6	UTSW	2	87,339,043 (GRCm39)	missense	probably damaging	1.00
R7991:Pramel6	UTSW	2	87,340,031 (GRCm39)	missense	probably benign	0.00
R8116:Pramel6	UTSW	2	87,338,808 (GRCm39)	missense	probably benign	0.02
R8367:Pramel6	UTSW	2	87,340,814 (GRCm39)	missense	probably damaging	1.00
R8487:Pramel6	UTSW	2	87,339,045 (GRCm39)	missense	probably damaging	1.00
R9521:Pramel6	UTSW	2	87,340,629 (GRCm39)	nonsense	probably null
Z1176:Pramel6	UTSW	2	87,339,066 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGCCTGAAGACCCCTTTGAAG -3'
(R):5'- AATCCTCATAGCATTCCTGAGG -3'

Sequencing Primer
(F):5'- GAAGACCTTGTCAATTACGGACTGC -3'
(R):5'- TCATAGCATTCCTGAGGGGCAG -3'

Posted On

2018-06-06